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Am J Med Genet. 1987 Nov;28(3):575-9.

A patient with partial duplication 2q and partial deficiency 11q.

Author information

1
Department of Pediatrics, Medical Center of Central Georgia, Macon 31201.

Abstract

A patient with partial duplication 2q and partial deficiency 11q is reported. The propositus was delivered at 30 weeks gestation, with a birth weight of 1,390 g. He had severe hyaline membrane disease, intraventricular hemorrhage, bronchopulmonary dysplasia, hypotonia, psychomotor retardation, hearing loss, and other anomalies including a short bitemporal diameter, prominent occiput, low-set ears, exophthalmos, short nose with depressed nasal root, downturned mouth corners, narrow high-arched palate, micrognathia, a deep longitudinal groove over the sacrococcygeal region, clinodactyly, and abnormal dermatoglyphics. Chromosome analysis showed the following karyotype: 46,XY,der11,t(2:11)(q32.2;q25)pat.

PMID:
3322008
DOI:
10.1002/ajmg.1320280305
[Indexed for MEDLINE]

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